LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene.

Journal of inherited metabolic disease

Volumn 30, Issue 4, 2007, Pages 611-

  Al Dirbashi, O Y ^a   Abu Amero, K K ^a   Alswaid, A F ^a   Hoffmann, G F ^a   Al Qahtani, K ^a   Rashed, M S ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AMINO ACID TRANSPORTER; SLC7A9 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGE; ARTICLE; BLOOD; CASE REPORT; CONSANGUINITY; CYSTINURIA; FEMALE; GENETICS; HUMAN; LIQUID CHROMATOGRAPHY; MALE; MASS SPECTROMETRY; METHODOLOGY; MIDDLE AGED; MUTATION; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGE FACTORS; AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACIDS; CHILD, PRESCHOOL; CHROMATOGRAPHY, LIQUID; CONSANGUINITY; CYSTINURIA; FEMALE; HUMANS; MALE; MASS SPECTROMETRY; MIDDLE AGED; MUTATION;

EID: 34648823742     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0670-3     Document Type: Article

References (0)